BioPortfolio "epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)" Antibody

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Current Search: epilepsi: 265, progress: 8704, myoclonu: 24, type: 82900, 2a: 7932, lafora: 3, diseas: 101014, laforin: 4

PT3699-3E (PR27547) Hu Plas 12K page 366
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author: emmachleder updated: 22/08/2002 matching: epilepsi progress myoclonu type lafora diseas laforin

- Recoil wobbler, rcw, a new neurological mutation in the proximal region of mouse Chromosome 10 Susan A. Cook, et al. - The
Disruptions of the gene named epilepsy, progressive myoclonic epilepsy, type 2 gene alpha cause neurodegeneration and myoclonus epilepsy in humans ( EPM2A, OMIM 607566 , 2003) and mice ( Epm2a , MGD 2003).

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EPM2A Antibody EPM2A
Additional Names EPM2AIP1, FLJ11207, KIAA0766, EPM2A (laforin) interacting protein 1, laforin interacting protein 1 Source EPM2A antibody was raised against a synthetic peptide of EPM2A.
Laforin preferentially binds the neurotoxic starch-like polyglucosans, which form in its absence in progressive myoclonus epilepsy.

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Boston Biochem: UPP-Related Publications
(2005) -From The Cover: Insights into Lafora disease: Malin is an E3 ubiquitin ligase that ubiquitinates and promotes the degradation of laforin.- PNAS 102(24): 8501-8506.
-The GABAA receptor α 1 subunit epilepsy mutation A322D inhibits transmembrane helix formation and causes proteasomal degradation.- PNAS 104(32): 12999-13004.

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updated: 09/12/2008 matching: epilepsi progress myoclonu laforin

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